Traits

Traits linked to PCCA

propionyl-CoA carboxylase subunit alpha

The Human Phenotype Ontology links 40 traits to PCCA, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Increased level of hippuric acid in urine	Always
High blood ammonia levels	Very often (80–99%)
Low blood sugar	Very often (80–99%)
Organic aciduria	Very often (80–99%)
Propionyl-CoA carboxylase deficiency	Very often (80–99%)
Dehydration	Not recorded
Elevated blood glycine levels	Not recorded
High urine glycine levels	Not recorded
Increased lactate in body	Not recorded
Metabolic acidosis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Often (30–79%)
Acute encephalopathy	Not recorded
Coma	Not recorded
Degeneration of cerebrum	Not recorded
Dystonia	Not recorded
Epilepsy	Not recorded
Lethargy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Very often (80–99%)
Enlarged liver	Often (30–79%)
Feeding difficulties in infancy	Not recorded
Pancreatic inflammation	Not recorded
Poor appetite	Not recorded
Vomiting	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Cerebellar hemorrhage	Sometimes (5–29%)
Low blood cell count	Not recorded
Low blood neutrophil count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Low platelet count	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Often (30–79%)
Eczema	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Not recorded
Osteoporosis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Not recorded
Increased respiratory rate or depth of breathing	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded
Short stature	Not recorded

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PCCA and how often each is seen. Find out more at hpo.jax.org.

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